Leukocyte adhesion deficiency syndromes:: adhesion and tethering defects involving β2 integrins and selectin ligands
Leukocyte adhesion deficiency syndromes:: adhesion and tethering defects involving β2 integrins and selectin ligands
复制标题
DOI：
10.1097/00062752-200201000-00006
复制
发表时间：
2002-01-01
影响因子：
3.2
通讯作者：
Zimmerman, GA
中科院分区：
文献类型：
--
作者：
Bunting, M;Harris, ES;Zimmerman, GA
白细胞粘附缺陷 (LAD) 综合征是由于髓系白细胞对微生物入侵部位的束缚、粘附和靶向存在缺陷，导致宿主对细菌、真菌和其他微生物的先天防御失败。 LAD I 和变异型 LAD I 综合征是由损害 β (2) 类整合素（CD11/CD18 整合素，或“白细胞”整合素）的表达或功能的突变引起的。相反，患有 LAD II 的受试者具有相似的临床特征，但白细胞整合素表达和功能完整。 LAD II 的分子基础是粘附分子选择素家族识别的白细胞上配体的糖基化缺陷以及其他糖缀合物的糖基化缺陷。该缺陷最近被归因于位于高尔基体的新型岩藻糖转运蛋白的突变。建立 LAD 综合征的分子基础，使我们对与多种免疫缺陷综合征以及导致组织损伤的不受调节的炎症疾病和病症相关的白细胞积累机制有了深入的了解。 (C) 2002 年 Lippincott Williams & Wilkins, Inc.
Leukocyte adhesion deficiency (LAD) syndromes are failures of innate host defenses against bacteria, fungi, and other microorganisms resulting from defective tethering, adhesion, and targeting of myeloid leukocytes to sites of microbial invasion. LAD I and variant LAD I syndromes are caused by mutations that impair expression or function of integrins of the beta (2) class (CD11/CD18 integrins, or "leukocyte" integrins). In contrast, subjects with LAD II have similar clinical features but intact leukocyte integrin expression and function. The molecular basis for LAD II is defective glycosylation of ligands on leukocytes recognized by the selectin family of adhesion molecules as well as defective glycosylation of other glycoconjugates, The defect has recently been attributed to mutations in a novel fucose transporter localized to the Golgi apparatus. Establishing the molecular basis for LAD syndromes has generated insights into mechanisms of leukocyte accumulation relevant to a broad variety of immunodeficiency syndromes as well as to diseases and disorders of unregulated inflammation that result in tissue damage. (C) 2002 Lippincott Williams & Wilkins, Inc.